Incidental Mutation 'IGL01616:Ivns1abp'
| ID |
92393 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ivns1abp
|
| Ensembl Gene |
ENSMUSG00000023150 |
| Gene Name |
influenza virus NS1A binding protein |
| Synonyms |
1190004M08Rik, 1700126I16Rik, Nd1-L, HSPC068, NS1-BP, ND1, Nd1-S, NS-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.438)
|
| Stock # |
IGL01616
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
151220228-151240173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 151237294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 486
(T486K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023918]
[ENSMUST00000097543]
[ENSMUST00000111887]
[ENSMUST00000186745]
[ENSMUST00000190872]
|
| AlphaFold |
Q920Q8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023918
AA Change: T528K
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023918
Gene: ENSMUSG00000023150
AA Change: T528K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
32 |
129 |
1.89e-25 |
SMART |
|
BACK
|
134 |
233 |
3.39e-8 |
SMART |
|
low complexity region
|
325 |
338 |
N/A |
INTRINSIC |
|
Kelch
|
369 |
415 |
4.78e-15 |
SMART |
|
Kelch
|
416 |
463 |
2.16e-13 |
SMART |
|
Kelch
|
464 |
512 |
2.15e-8 |
SMART |
|
Kelch
|
513 |
559 |
1.58e-15 |
SMART |
|
Kelch
|
560 |
606 |
1.61e-12 |
SMART |
|
Kelch
|
607 |
641 |
1.85e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097543
AA Change: T486K
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095150
Gene: ENSMUSG00000023150
AA Change: T486K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
32 |
129 |
1.89e-25 |
SMART |
|
Pfam:BACK
|
134 |
189 |
3.3e-8 |
PFAM |
|
low complexity region
|
283 |
296 |
N/A |
INTRINSIC |
|
Kelch
|
327 |
373 |
4.78e-15 |
SMART |
|
Kelch
|
374 |
421 |
2.16e-13 |
SMART |
|
Kelch
|
422 |
470 |
2.15e-8 |
SMART |
|
Kelch
|
471 |
517 |
1.58e-15 |
SMART |
|
Kelch
|
518 |
564 |
1.61e-12 |
SMART |
|
Kelch
|
565 |
599 |
1.85e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111887
|
| SMART Domains |
Protein: ENSMUSP00000107518
Gene: ENSMUSG00000023150
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
32 |
129 |
1.89e-25 |
SMART |
|
BACK
|
134 |
219 |
7.04e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186745
|
| SMART Domains |
Protein: ENSMUSP00000140708
Gene: ENSMUSG00000023150
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
32 |
129 |
1.89e-25 |
SMART |
|
BACK
|
134 |
219 |
7.04e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190872
AA Change: T37K
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000140332
Gene: ENSMUSG00000023150
AA Change: T37K
| Domain | Start | End | E-Value | Type |
|---|
|
Kelch
|
22 |
68 |
5.3e-18 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit some early lethality, increased cellular sensitivity to cytochalasin and doxorubicin, and doxorubicin-induced cardiotoxicity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
T |
A |
16: 85,684,702 (GRCm39) |
|
probably null |
Het |
| Afg3l1 |
T |
A |
8: 124,228,746 (GRCm39) |
W771R |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,628,586 (GRCm39) |
S348P |
probably damaging |
Het |
| Cd200 |
T |
C |
16: 45,217,419 (GRCm39) |
T112A |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,828,993 (GRCm39) |
I304V |
probably benign |
Het |
| Fcsk |
G |
T |
8: 111,617,108 (GRCm39) |
H388N |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,323,064 (GRCm39) |
T1072A |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,362,276 (GRCm39) |
|
probably null |
Het |
| Gcdh |
C |
T |
8: 85,620,288 (GRCm39) |
G8D |
probably damaging |
Het |
| Mat1a |
G |
A |
14: 40,831,436 (GRCm39) |
V55M |
probably damaging |
Het |
| Or52p1 |
T |
C |
7: 104,266,928 (GRCm39) |
F22S |
probably damaging |
Het |
| Pcnx3 |
C |
T |
19: 5,717,287 (GRCm39) |
|
probably benign |
Het |
| Psrc1 |
C |
A |
3: 108,294,008 (GRCm39) |
S275Y |
possibly damaging |
Het |
| Ptpn21 |
A |
G |
12: 98,646,272 (GRCm39) |
L1062P |
probably damaging |
Het |
| Slc22a13b |
A |
C |
9: 119,049,994 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
T |
A |
11: 95,279,910 (GRCm39) |
M178K |
probably benign |
Het |
| Slc6a11 |
A |
T |
6: 114,111,829 (GRCm39) |
Q132L |
possibly damaging |
Het |
| Slc9a8 |
C |
T |
2: 167,266,086 (GRCm39) |
T21I |
possibly damaging |
Het |
| Tox |
T |
C |
4: 6,688,430 (GRCm39) |
T526A |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,850,828 (GRCm39) |
P1749S |
probably benign |
Het |
| Wdfy3 |
C |
A |
5: 102,061,126 (GRCm39) |
A1363S |
probably damaging |
Het |
| Zdhhc23 |
T |
A |
16: 43,793,843 (GRCm39) |
H277L |
probably damaging |
Het |
|
| Other mutations in Ivns1abp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00225:Ivns1abp
|
APN |
1 |
151,226,863 (GRCm39) |
splice site |
probably null |
|
|
IGL02061:Ivns1abp
|
APN |
1 |
151,227,324 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02630:Ivns1abp
|
APN |
1 |
151,235,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Ivns1abp
|
UTSW |
1 |
151,230,446 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT1430001:Ivns1abp
|
UTSW |
1 |
151,237,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0107:Ivns1abp
|
UTSW |
1 |
151,237,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0609:Ivns1abp
|
UTSW |
1 |
151,235,896 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1104:Ivns1abp
|
UTSW |
1 |
151,235,860 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1463:Ivns1abp
|
UTSW |
1 |
151,237,291 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1512:Ivns1abp
|
UTSW |
1 |
151,236,688 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1512:Ivns1abp
|
UTSW |
1 |
151,236,687 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1521:Ivns1abp
|
UTSW |
1 |
151,227,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1550:Ivns1abp
|
UTSW |
1 |
151,237,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2047:Ivns1abp
|
UTSW |
1 |
151,227,382 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2435:Ivns1abp
|
UTSW |
1 |
151,239,061 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4471:Ivns1abp
|
UTSW |
1 |
151,236,990 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5011:Ivns1abp
|
UTSW |
1 |
151,238,953 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5667:Ivns1abp
|
UTSW |
1 |
151,229,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5671:Ivns1abp
|
UTSW |
1 |
151,229,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6505:Ivns1abp
|
UTSW |
1 |
151,236,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8357:Ivns1abp
|
UTSW |
1 |
151,229,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8457:Ivns1abp
|
UTSW |
1 |
151,229,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ivns1abp
|
UTSW |
1 |
151,226,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-12-09 |
Incidental Mutation